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NAGPA Gene

protein-coding   GIFtS: 55
GCID: GC16M005014

N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase

  See NAGPA-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase1 2     APAA2
Mannose 6-Phosphate-Uncovering Enzyme2 3     Alpha-N-Acetylglucosaminyl Phosphodiesterase2
Phosphodiester Alpha-GlcNAcase2 3     Lysosomal Alpha-N-Acetylglucosaminidase2
UCE2 5     EC 3.1.4.453

External Ids:    HGNC: 173781   Entrez Gene: 511722   Ensembl: ENSG000001031747   OMIM: 6079855   UniProtKB: Q9UK233   

Export aliases for NAGPA gene to outside databases

Previous GC identifers: GC16M005107 GC16M005075


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NAGPA Gene:
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network.
This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate
recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes
N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the
recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a
homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the
protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and
trans-Golgi network. (provided by RefSeq, Jul 2008)

GeneCards Summary for NAGPA Gene:
NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase) is a protein-coding gene. Diseases associated with NAGPA include speech disorder. GO annotations related to this gene include N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
Function: Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal
enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the
first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases

Gene Wiki entry for NAGPA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NAGPA gene promoter:
         GR   SREBP-1c   Tal-1beta   Nkx5-1   SREBP-1b   E47   AREB6   SREBP-1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAGPA promoter sequence
   Search Chromatin IP Primers for NAGPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NAGPA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

NAGPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAGPA gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M005014:  view genomic region     (about GC identifiers)

Start:
5,074,845 bp from pter      End:
5,084,142 bp from pter
Size:
9,298 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23 (See protein sequence)
Recommended Name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor  
Size: 515 amino acids; 56073 Da
Subunit: Homotetramer arranged as two disulfide-linked homodimers (By similarity)
Secondary accessions: B2RAS1 Q96EJ8
Alternative splicing: 3 isoforms:  Q9UK23-1   Q9UK23-2   Q9UK23-3   

Explore the universe of human proteins at neXtProt for NAGPA: NX_Q9UK23

Explore proteomics data for NAGPA at MOPED

Post-translational modifications: 

  • The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase1
  • Glycosylation2 at Asn208, Asn214, Asn296, Asn366, Asn388, Asn420
  • Modification sites at PhosphoSitePlus

  • See NAGPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057340.2  
    ENSEMBL proteins: 
     ENSP00000310998   ENSP00000371381   ENSP00000455900   ENSP00000467385   ENSP00000465949  
     ENSP00000465523   ENSP00000468270   ENSP00000464994  

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for NAGPA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018711 DUF2233
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9UK23

    ProtoNet protein and cluster: Q9UK23

    UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
    Domain: The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to
    the TGN
    Domain: The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal acting at the
    plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the cis/medial-Golgi
    Similarity: Contains 1 EGF-like domain


    Find genes that share domains with NAGPA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAGPA_HUMAN, Q9UK23
    Function: Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal
    enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the
    first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases
    Catalytic activity: Glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H(2)O = N-acetyl-D-glucosamine +
    glycoprotein phospho-D-mannose

         Enzyme Number (IUBMB): EC 3.1.4.451

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003944N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with NAGPA           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nagpa):
     cellular 

    Find genes that share phenotypes with NAGPA           About GenesLikeMe

    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate NAGPA (see all 18):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-4272 hsa-miR-1271 hsa-miR-30d hsa-miR-1297 hsa-miR-9 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidNAGPA 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NAGPA_HUMAN, Q9UK23: Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus,
    trans-Golgi network. Note=Cis/medial Golgi
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    lysosome2
    plasma membrane2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    Find genes that share ontologies with NAGPA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NAGPA About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome


    Find genes that share SuperPaths with NAGPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for NAGPA):
        Lysosome

    UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including NAGPA: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NAGPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for NAGPA (Q9UK233 ENSP000003109984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FURINP099583, ENSP000002681714I2D: score=2 STRING: ENSP00000268171
    AP2A1O957823, ENSP000003519264I2D: score=2 STRING: ENSP00000351926
    EPS15P425663, ENSP000003607984I2D: score=3 STRING: ENSP00000360798
    DEGS1ENSP000003164764STRING: ENSP00000316476
    ZHX2ENSP000003147094STRING: ENSP00000314709
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS10551838
    GO:0006464cellular protein modification process TAS10551838
    GO:0006486protein glycosylation IEA--
    GO:0006622protein targeting to lysosome TAS10551838
    GO:0007040lysosome organization TAS10551838

    Find genes that share ontologies with NAGPA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NAGPA

    2 HMDB Compounds for NAGPA    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for NAGPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6target--8294420 9722550 17139284 17016423 17927214

    5 Novoseek inferred chemical compound relationships for NAGPA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 89.4 12 15864430 (1), 12058031 (1), 17927214 (1), 8294420 (1) (see all 7)
    udp-n-acetylglucosamine 74.4 2 8294420 (1), 2167847 (1)
    phosphodiester 71.5 15 8294420 (4), 10551838 (4), 7786023 (2)
    n-acetylglucosamine 71.5 6 15864430 (1), 12058031 (1), 7786023 (1), 11408573 (1)
    mannose 43.7 2 12058031 (1), 11723124 (1)



    Find genes that share compounds with NAGPA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NAGPA gene: 
    NM_016256.3  

    Unigene Cluster for NAGPA:

    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    Hs.21334  [show with all ESTs]
    Unigene Representative Sequence: NM_016256
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312251(uc002cyg.3) ENST00000381955(uc010buc.3) ENST00000564397
    ENST00000562746(uc002cyh.3) ENST00000568202 ENST00000563578 ENST00000566137
    ENST00000567739 ENST00000569296 ENST00000565876 ENST00000568528 ENST00000562346
    ENST00000562037 ENST00000569793 ENST00000591478 ENST00000561580(uc010uxx.2)
    ENST00000564922
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    hsa-miR-30c hsa-miR-3607-3p hsa-miR-4272 hsa-miR-1271 hsa-miR-30d hsa-miR-1297 hsa-miR-9 hsa-miR-30a
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    Additional mRNA sequence: 

    AF052111.1 AF187072.1 AK025570.1 AK026122.1 AK127952.1 AK302916.1 AK314320.1 

    11 DOTS entries:

    DT.100790624  DT.312162  DT.100790628  DT.95199040  DT.92023445  DT.100790623  DT.95280284  DT.100024248 
    DT.100767383  DT.87010533  DT.92424627 

    Selected AceView cDNA sequences (see all 131):

    BU844409 AA047671 BI193076 CB123089 BM457386 CR599974 AW239249 CR601621 
    BU859544 AL524697 CR598113 BG758672 BX091704 AF052111 BU608370 BX401157 
    BF797606 BG703600 AI805393 AI288605 BX342155 BG574132 BX377209 AL524816 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NAGPA (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ·
    SP1:                                      -                 -                                                                                                   
    SP2:                                      -                 -                       -     -                                                                     
    SP3:                                                                                                                                                            
    SP4:                                      -                 -                       -     -     -     -     -     -     -     -     -     -     -               
    SP5:                                -     -                 -                       -     -                                                                     

    ExUns: 13c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for NAGPA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NAGPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACAGACC
    NAGPA Expression
    About this image


    NAGPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    NAGPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NAGPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21334

    UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
    Tissue specificity: Isoform 2 may be brain-specific

        Pathway & Disease-focused RT2 Profiler PCR Array including NAGPA: 
              Glycosylation in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGPA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NAGPA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nagpa1 , 5 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase1, 5 82.14(n)1
    80.39(a)1
      16 (2.51 cM)5
    274261  NM_013796.31  NP_038824.21 
     51952895 
    chicken
    (Gallus gallus)
    Aves NAGPA1 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 64.27(n)
    62.42(a)
      416395  XM_414709.4  XP_414709.4 
    lizard
    (Anolis carolinensis)
    Reptilia NAGPA6
    N-acetylglucosamine-1-phosphodiester alpha-N-acety...
    54(a)
    1 ↔ 1
    GL343263.1(942518-965750)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nagpa1 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 56.04(n)
    61.73(a)
      100380073  XM_002942145.2  XP_002942191.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1655341 zgc:165534 60.26(n)
    58.97(a)
      569719  NM_001109715.1  NP_001103185.1 


    ENSEMBL Gene Tree for NAGPA (if available)
    TreeFam Gene Tree for NAGPA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NAGPA (see all 413)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462721191,2
    C--5011040(+) GGAGGC/TTGACT 1 -- ds50010--------
    rs124487091,2
    C,F,H--5011107(+) aaaaaA/Gtttta 1 -- ds50018Minor allele frequency- G:0.24NA CSA WA EA 368
    rs1881662061,2
    --5011182(+) AATCAC/TTTGAG 1 -- ds50010--------
    rs29086671,2
    C,H--5011227(-) GTGCAA/GTGGCA 1 -- ds50013Minor allele frequency- G:0.17NA 6
    rs1174176831,2
    C,F--5011271(+) TAAGAA/CAGACA 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1461244051,2
    C--5011314(+) TCGTC-/AAGAGA 1 -- ds50010--------
    rs1127216041,2
    F--5011463(+) ATGCCA/C/GTTGTG 1 -- ds50011CSA 2
    rs1847427001,2
    --5011470(+) TGTGAC/TTTCTG 1 -- ds50010--------
    rs1905376461,2
    --5011580(+) TTCAAC/GTGATT 1 -- ut310--------
    rs71101,2
    C,F,O,A,H--5011634(-) GATGAA/GATCAT 1 -- ut3141Minor allele frequency- G:0.29EA MN NS NA WA CSA 5088

    HapMap Linkage Disequilibrium report for NAGPA (5074845 - 5084142 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NAGPA (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422516CNV Deletion17116639
    nsv905254CNV Loss21882294
    nsv1722CNV Loss18451855
    nsv905255CNV Loss21882294
    nsv457360CNV Loss19166990
    nsv817715CNV Gain17921354
    esv25186CNV Gain19812545
    nsv428318CNV Gain18775914
    esv34300CNV Gain17911159
    dgv796e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NAGPA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NAGPA
    DNA2.0 Custom Variant and Variant Library Synthesis for NAGPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607985    OMIM disorders: --

    1 disease for NAGPA:    
    About MalaCards
    speech disorder

    1 disease from the University of Copenhagen DISEASES database for NAGPA:
    Speech disorder

    Find genes that share disorders with NAGPA           About GenesLikeMe


    Export disorders for NAGPA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NAGPA gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with NAGPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin. (PubMed id 12058031)1, 2, 3, 9 Do H....Kornfeld S. (J. Biol. Chem. 2002)
    2. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N- acetylglucosaminidase. (PubMed id 10551838)1, 2, 3, 9 Kornfeld R.H.... Canfield W.M. (J. Biol. Chem. 1999)
    3. Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme. (PubMed id 23572527)1, 2 Das D....Wilson I.A. (J. Biol. Chem. 2013)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Purification and multimeric structure of bovine N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PubMed id 9722550)1, 7 Kornfeld R....Canfield W.M. (J. Biol. Chem. 1998)
    7. Purification and kinetic parameters of bovine liver N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PubMed id 8294420)7, 9 Mullis K.G....Kornfeld R.H. (J. Biol. Chem. 1994)
    8. Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network. (PubMed id 11408573)1, 9 Rohrer J. and Kornfeld R. (Mol. Biol. Cell 2001)
    9. Purification and characterization of human serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PubMed id 7786023)1, 9 Lee J.K. and Pierce M. (Arch. Biochem. Biophys. 1995)
    10. Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme. (PubMed id 11723124)1, 9 Lee W.S....Kornfeld S. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51172 HGNC: 17378 AceView: NAGPA Ensembl:ENSG00000103174 euGenes: HUgn51172
    ECgene: NAGPA Kegg: 51172 H-InvDB: NAGPA

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NAGPA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NAGPA gene:
    Search GeneIP for patents involving NAGPA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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